No paralogue variants have been mapped to residue 1785 for CACNA1C.
CACNA1C | TGSNANI--NNANNTALGRLPRPAG----Y>P<STVSTVEGHGPPLSPAIR--VQEVAWKLSS | 1813 |
CACNA1A | --------------ENQRRRGRPR------>-<---GNNLSTISDTSPMKRSASVL------- | 2129 |
CACNA1B | --------------ETQ-----P------->-<---------VTDASPMKRSISTL------- | 2026 |
CACNA1D | TSTNANL--NNANMSKAAHGKRPSIGNLEH>V<SENGHHSSHKHDREPQRRSSVKRTRYYETY | 1830 |
CACNA1E | --------------DPQ------------->-<--------VVTDPSSMRRSFSTI------- | 2024 |
CACNA1F | TSSQPSV--PQAGSNTHRRGSG-------->-<-------------------------ALIFT | 1728 |
CACNA1G | GTIPKLPPPG---RSPL------------->-<----AQRPLRRQAAIRTDSLDVQ------- | 2144 |
CACNA1H | QPTAEPH----------------------->-<------------------------------ | 2118 |
CACNA1I | GSL-QTTLED---SLT-------------->-<-------------LSDSP------------ | 2042 |
CACNA1S | PLARANT--NNAN----------------->-<------------------------------ | 1665 |
SCN10A | SYESVT------------------------>-<------------------------------ | 1925 |
SCN11A | CNGDLS------------------------>-<------------------------------ | 1779 |
SCN1A | SYDRVT------------------------>-<------------------------------ | 1990 |
SCN2A | SYDSVT------------------------>-<------------------------------ | 1979 |
SCN3A | SYDSVT------------------------>-<------------------------------ | 1974 |
SCN4A | TMGLMP------------------------>-<------------------------------ | 1809 |
SCN5A | SYDSVT------------------------>-<------------------------------ | 1981 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | SYDSVT------------------------>-<------------------------------ | 1951 |
SCN9A | SYDSVT------------------------>-<------------------------------ | 1951 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1785L | c.5354C>T | Putative Benign | rs373335944 | SIFT: tolerated Polyphen: benign |